Anatomy, Histology, Embryology, and Developmental Anomalies of the Small and Large Intestine

Sleisenger and Fordtran’s Gastrointestinal and Liver Disease- 2 Volume Set: Pathophysiology, Diagnosis, Management, Expert Consult Premium Edition - Enhanced Online Features and Print

Volumn , Issue , 2010, Pages 1615-1641

  Kahn, Ellen ^a,b   Daum, Fredric ^c,d  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b North Shore Gastroenterology Associates   (United States)

^c STONY BROOK UNIVERSITY MEDICAL CENTER   (United States)

^d WINTHROP UNIVERSITY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 85124854801     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-1-4160-6189-2.00096-2     Document Type: Chapter

References (89)

1. Abdullah F., Arnold MA., Nabaweesi R., et al. Gastroschisis in the United States 1988-2003: Analysis and risk categorization of 4344 patients J Perinatol 27 2007 50-55(Ref 22.)
2. Amiel J., Sproat-Emison E., Garcia-Barcelo M., et al. Hirschsprung disease, associated syndromes and genetics: A review J Med Genet 45 2008 1-14(Ref 54.)
3. Auclair BA., Benoit YD., Rivard N., et al. Bone morphogenetic protein signaling is essential for terminal differentiation of the intestinal secretory lineage Gastroenterology 133 2007 887-896(Ref 2.)
4. Cho S., Moore SP., Fangman T One hundred three consecutive patients with anorectal malformations and their associated anomalies Arch Pediatr Adolesc Med 155 2001 587-591(Ref 43.)
5. Fairbank TJ., Sala FG., Kanard R., et al. The fibroblast growth factor pathway serves a regulatory role in proliferation and apoptosis in the pathogenesis of intestinal atresia J Pediatr Surg 41 2006 132-136(Ref 36.)
6. Goulet O., Salomon J., Ruemmele F., et al. Intestinal epithelial dysplasia (tufting enteropathy) Orphanet J Rare Dis 2 2007 20-29(Ref 71.)
7. Karnak I., Ocal T., Senocak ME., et al. Alimentary tract duplication in children: Report of 26 years experience Turk J Pediatr 42 2000 118-125(Ref 33.)
8. Madison BB., Braunstein K., Kuizon E., et al. Epithelial hedgehog signals pattern the intestinal crypt-villus axis Development 132 2005 279-289(Ref 3.)
9. Mastroiacovo P., Lisi A., Castilla EE., et al. Gastroschisis and associated defects: An international study Am J Genet A 143 2007 660-671(Ref 21.)
10. Meier-Ruge WA., Ammann K., Bruder E., et al. Updated results on intestinal neuronal dysplasia (INDB) Eur J Pediatr Surg 14 2004 384-391(Ref 62.)
11. Pena A Imperforate anus In: Wyllie R., Hyams JS Pediatric Gastrointestinal Disease. Pathophysiology, Diagnosis, Management2nd ed 1999 WB Saunders Philadelphia 499(Ref 49.)
12. Penco JM., Murillo JC., Hernandez A., et al. Anomalies of intestinal rotation and fixation: Consequences of late diagnosis beyond two years of age Pediatr Surg Int 23 2007 723-730(Ref 29.)
13. Schonhoff SE., Giel-Moloney M., Leiter AB Minireview: Development and differentiation of gut endocrine cells Endocrinology 145 2004 2639-2644(Ref 8.)
14. Scoville DH., Sato T., He XC., Li L Current view: Intestinal stem cells and signaling Gastroenterology 134 2008 849-864(Ref 1.)
15. Scoville DH., Sato T., He XC., Li L Current view: Intestinal stem cells and signaling Gastroenterology 134 2008 849-864.
16. Auclair BA., Benoit YD., Rivard N., et al. Bone morphogenetic protein signaling is essential for terminal differentiation of the intestinal secretory lineage Gastroenterology 133 2007 887-896.
17. Madison BB., Braunstein K., Kuizon E., et al. Epithelial hedgehog signals pattern the intestinal crypt-villus axis Development 132 2005 279-289.
18. Mori-Akiyama Y., van den Born M., van Es JH., et al. SOX9 is required for the differentiation of Paneth cells in the intestinal epithelium Gastroenterology 133 2007 539-546.
19. Menard S., Foerster V., Lotz M., et al. Developmental switch of intestinal antimicrobial peptide expression J Exp Med 205 2008 183-196.
20. Rindi G., Leiter AB., Kopin AS., et al. The “normal” endocrine cell of the gut. Changing concepts and new evidence Ann N Y Acad Sci 1014 2004 1-14.
21. Jakobsen AM., Andersson P., Saglik G., et al. Differential expression of vesicular monoamine transporter (VMAT) 1 and 2 in gastrointestinal endocrine tumors J Pathol 195 2001 463-472.
22. Schonhoff SE., Giel-Moloney M., Leiter AB Minireview: Development and differentiation of gut endocrine cells Endocrinology 145 2004 2639-2644.
23. Desai S., Loomis Z., Pugh-Bernard A., et al. Nkx2.2 regulates cell fate choice in the enteroendocrine cell lineage of the intestine Dev Biol 313 2008 58-66.
24. Ahmed A., Yee H., Grecco MA., Kahn E Distribution of c-Kit positive interstitial cells of Cajal in the gastrointestinal tract of fetuses and children [abstract] Modern Pathol 14 2001 3P.
25. Wouters MM., Gibbons SJ., Roeder JL., et al. Exogenous serotonin regulates proliferation of interstitial cells of Cajal in mouse jejunum through 5-Ht2B receptors Gastroenterology 133 2007 897-906.
26. Kim BM., Mao J., Taketo MM., Shivdasani RA Phases of canonical Wnt signaling during the development of mouse intestinal epithelium Gastroenterology 133 2007 529-538.
27. Gassler N., Roth W., Funke B., et al. Regulation of enterocyte apoptosis by acyl-coA synthetase 5 splicing Gastroenterology 133 2007 587-598.
28. Hofmann C., Obermeier F., Artinger M., et al. Cell-cell contacts prevent anoikis in primary human colonic epithelial cells Gastroenterology 132 2007 587-600.
29. Cano DA., Hebrok M., Zenker M Pancreatic development and disease Gastroenterology 132 2007 745-762.
30. Sadler TW Digestive System. Langman’s Medical Embryology10th ed 2006 Lippincott Williams & Wilkins Philadelphia.
31. Mandhan P., Quan QB., Beasley S., Sullivan M Sonic hedgehog, BMP4, and Hox genes in the development of anorectal malformations in ethylenethiourea-exposed fetal rats J Pediatr Surg 41 2006 2041-2045.
32. Gariepy E Developmental disorders of the enteric nervous system: Genetic and molecular bases J Pediatr Gastroenterol Nutr 39 2004 5-11.
33. Jacquemin E., Cresteil D., Raynaud N., Hadchouel M CFC1 gene mutation and biliary atresia with polysplenia syndrome J Pediatr Gastroenterol Nutr 34 2002 326-327.
34. Bamford RN., Roessler E., Burdine RD., et al. Loss-of-function mutations in the EGF-CF gene CFC1 are associated with human left-right laterality defects Nat Genet 26 2000 365-369.
35. Mastroiacovo P., Lisi A., Castilla EE., et al. Gastroschisis and associated defects: An international study Am J Genet A 143 2007 660-671.
36. Abdullah F., Arnold MA., Nabaweesi R., et al. Gastroschisis in the United States 1988-2003: Analysis and risk categorization of 4344 patients J Perinatol 27 2007 50-55.
37. Heinrich K., Huemmer HP., Reingruber B., Weber PG Gastroschisis and omphalocele: Treatments and long-term outcomes. J Pediatr Surg Int 24 2008 167-173.
38. Sawada F., Yoshimura R., Ito K., et al. Adult case of an omphalomesenteric cyst resected by laparoscopic-assisted surgery World J Gastroenterol 12 2006 825-827.
39. Zani A., Eaton S., Rees CM., Pierro A Incidentally detected Meckel diverticulum: To resect or not to resect? Ann Surg 247 2008 276-281.
40. McKay R High incidence of symptomatic Meckel’s diverticulum in patients less than fifty years of age: An indication for resection Am Surg 73 2007 271-275.
41. Nursal TZ., Yildirim S., Tarim A., Noyan T Laparoscopic resection of patent omphalomesenteric duct in an adult Surg Endosc 16 2002 1638.
42. Palanivelu C., Rangarajan M., Shetty AR., Jani K Intestinal malrotation with midgut volvulus presenting as acute abdomen in children: Value of diagnostic and therapeutic laparoscopy J Laparoendosc Adv Surg Tech A 17 2007 490-492.
43. Penco JM., Murillo JC., Hernandez A., et al. Anomalies of intestinal rotation and fixation: Consequences of late diagnosis beyond two years of age Pediatr Surg Int 23 2007 723-730.
44. Malek MM., Burd RS Surgical treatment of malrotation after infancy: A population-based study J Pediatr Surg 40 2005 285-289.
45. Kuraoka K., Nakayama H., Kagawa T., et al. Adenocarcinoma arising from a gastric duplication cyst with invasion to the stomach: A case report and with literature review J Clin Pathol 57 2004 428-431.
46. Horne G., Ming-Lum C., Kirkpatrick AW., Parker RL High-grade neuroendocrine carcinoma arising in a gastric duplication cyst: A case report with literature review Int J Surg Pathol 15 2007 187-191.
47. Karnak I., Ocal T., Senocak ME., et al. Alimentary tract duplication in children: Report of 26 years experience Turk J Pediatr 42 2000 118-125.
48. Simsek A., Zeybek N., Yagci G., et al. Enteric and rectal duplication cysts in the adult ANZ J Surg 75 2005 174-176.
49. Komuro H., Amagai T., Hori T., et al. Placental vascular compromise in jejunoileal atresia J Pediatr Surg 39 2004 1701-1705.
50. Fairbank TJ., Sala FG., Kanard R., et al. The fibroblast growth factor pathway serves a regulatory role in proliferation and apoptosis in the pathogenesis of intestinal atresia J Pediatr Surg 41 2006 132-136.
51. Fairbank TJ., Kanard R., Del Moral PM., et al. Colonic atresia without mesenteric vascular occlusion. The role of the fibroblast growth factor 10 signaling pathway J Pediatr Surg 40 2005 390-396.
52. Shorter NA., Georges A., Perenyi A., Garrow E A proposed classification system for familial intestinal atresia and its relevance to the understanding of the etiology of jejunoileal atresia J Pediatr Surg 41 2006 1822-1825.
53. Ozturk H., Ozturk H., Gedik S., et al. A comprehensive analysis of 51 neonates with congenital intestinal atresia Saudi Med J 28 2007 1050-1054.
54. Grosfeld JL., Ballantine TVN., Shoemaker R Operative management of intestinal atresia and stenosis based on pathologic findings J Pediatr Surg 14 1979 368.
55. Komuro H., Hori T., Amagai T., et al. The etiologic role of intrauterine volvulus and intussusception in jejunoileal atresia J Pediatr Surg 39 2004 1812-1814.
56. Wax JR., Hamilton T., Cartin A., et al. Congenital jejunal and ileal atresia: natural prenatal sonographic history and association with neonatal outcome J Ultrasound Med 25 2006 337-342.
57. Levitt MA., Pena A Anorectal malformations Orphanet J Rare Dis 2 2007 33-49.
58. Cho S., Moore SP., Fangman T One hundred three consecutive patients with anorectal malformations and their associated anomalies Arch Pediatr Adolesc Med 155 2001 587-591.
59. van der Putte SC Anal and ano-urogenital malformations: A histopathological study of “imperforate anus” with a reconstruction of the pathogenesis Pediatr Dev Pathol 9 2006 280-296.
60. Titomanlio L., Giurgea I., Baumann C., et al. A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region Eur J Hum Genet 14 2006 971-974.
61. Mandhan P., Sullivan M., Quan QB., Beasley S The contribution of the sonic hedgehog cascade in the development of the enteric nervous system in fetal rats with anorectal malformations J Pediatr Surg 42 2007 2080-2085.
62. Mo R., Kim JH., Zhang J., et al. Anorectal malformations caused by defects in sonic hedgehog signaling Am J Pathol 159 2001 765-774.
63. Midrio P., Nogare CD., Di Gianantonio E., Clementi M Are congenital anorectal malformations more frequent in newborns conceived with assisted reproductive techniques? Reprod Toxicol 22 2006 576-577.
64. Pena A Imperforate anus In: Wyllie R., Hyams JS Pediatric Gastrointestinal Disease. Pathophysiology, Diagnosis, Management2nd ed 1999 WB Saunders Philadelphia 499.
65. Rolle U., Faber R., Robel-Tillig E., et al. Bladder outlet obstruction causes fetal enterolithiasis in anorectal malformation with rectourinary fistula J Pediatr Surg 43 2008 11-13.
66. Pena A., Levitt MA., Hong A., Midulla P Surgical management of cloacal malformations: A review of 339 patients J Pediatr Surg 39 2004 470-479.
67. Stoll C., Alembik Y., Dott B., Roth MP Associated malformations in patients with anorectal anomalies Eur J Med Genet 50 2007 281-290.
68. Ratan SK., Rattan KN., Pandey RM., et al. Associated congenital anomalies in patients with anorectal malformations-A need for developing a uniform practical approach J Pediatr Surg 39 2004 1706-1711.
69. Amiel J., Sproat-Emison E., Garcia-Barcelo M., et al. Hirschsprung disease, associated syndromes and genetics: A review J Med Genet 45 2008 1-14.
70. Moore SW., Zaahl MG A review of genetic mutation in familial Hirschsprung’s disease in South Africa towards genetic counseling J Pediatr Surg 43 2008 325-329.
71. Crone SA., Negro A., Trumpp A., et al. Colonic epithelial expression of ErbB2 is required for postnatal maintenance of the enteric nervous system Neuron 37 2003 29-40.
72. de Pontual L., Pelet A., Trochet D., et al. Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus J Med Genet 43 2006 419-423.
73. van de Putte T., Maruhashi M., Francis A., et al. Mice lacking Zfhx1b, the gene that codes for the Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome Am J Hum Genet 72 2003 465-470.
74. Dauger S., Pattyn A., Lofaso F., et al. Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways Development 130 2003 6635-6642.
75. Nakao M., Suita S., Taguchi T., et al. Fourteen-year experience of acetylcholinesterase staining for rectal mucosa biopsy in neonatal Hirschsprung’s disease J Pediatr Surg 36 2001 1357-1363.
76. Anitha M., Joseph I., Ding X., et al. Characterization of fetal and postnatal enteric neuronal cell lines with improvement in intestinal function Gastroenterology 134 2008 1424-1435.
77. Meier-Ruge WA., Ammann K., Bruder E., et al. Updated results on intestinal neuronal dysplasia (INDB) Eur J Pediatr Surg 14 2004 384-391.
78. Martucciello G., Torre M., Pini Prato A., et al. Associated anomalies in intestinal neuronal dysplasia J Pediatr Surg 37 2002 219-223.
79. Skaba R., Frantiova M., Horak J Intestinal neuronal dysplasia Eur J Gastroenterol Hepatol 18 2006 699-701.
80. Sherman P., Mitchel D., Cutz E Neonatal enteropathy: Defining the causes of protracted diarrhea of infancy J Pediatr Gastroenterol Nutr 38 2004 16-26.
81. Amosu MO., Mousa HM., Luquette M Clinical challenges and images in GI. Microvillous inclusion disease Gastroenterology 132 2007 1225 1639.
82. Rund C., Carmichael B., Harris AA., Schaffner V Small bowel biopsy in a 6-week-old infant. Microvillous inclusion disease in the small bowel Arch Pathol Lab Med 130 2006 e19-e21.
83. Mierau G., Wills EJ., Wyatt-Ashmead., et al. Microvillous inclusion disease: Report of a case with atypical features Ultrastruct Pathol 25 2001 517-521.
84. Groisman GM., Amar M., Livne E CD10: A valuable tool for the light microscopic diagnosis of microvillous inclusion disease (familial microvillous atrophy) Am J Surg Pathol 26 2002 902-907.
85. Ruemmele FM., Jan D., Lacaille F., et al. New perspectives for children with microvillous inclusion disease: Early small bowel transplantation Transplantation 77 2004 1024-1028.
86. Goulet O., Salomon J., Ruemmele F., et al. Intestinal epithelial dysplasia (tufting enteropathy) Orphanet J Rare Dis 2 2007 20-29.
87. Wright EM., Turk E., Martin MG Molecular basis for glucose-galactose malabsorption Cell Biochem Biophys 36 2002 115-121.
88. Hihnala S., Hoeglund P., Lammi J., et al. Long-term clinical outcome in patients with congenital chloride diarrhea J Pediatr Gastroenterol Nutr 42 2006 369-375.
89. Mueller T., Wijmenga C., Phillips AD., et al. Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes Gastroenterology 119 2000 1506-1513.